LWPES: Turner Syndrome Patients Need More than Growth Hormone
By Ed Susman, Contributing Writer, MedPage Today
Published: May 03, 2010
Reviewed by Dori F. Zaleznik, MD; Associate Clinical Professor of Medicine, Harvard Medical School, Boston and
Dorothy Caputo, MA, RN, BC-ADM, CDE, Nurse Planner
| LWPES: Turner Syndrome Patients Need More than Growth Hormone |
VANCOUVER -- Researchers here aid that girls
diagnosed with Turner Syndrome not only have growth
deficiency, but also are prone to obesity, diabetes
and other cardiovascular risk factors.
"Often
doctors will see a patient with Turner Syndrome and
prescribe human growth hormone treatment and may
consider that is all that is needed for these
children," said Zeina M. Nabhan, MD, of the James
Whitcomb Riley Hospital for Children at the Indiana
University School of Medicine in Indianapolis.
However, children with Turner Syndrome have a number
of other potential health risks, including the
tendency toward weight gain and obesity, Nabhan said
during a poster presentation on TS treatment at a
session of the Lawson Wilkins Pediatric Endocrine
Society, included in the Pediatric Academic Societies
annual meeting.
"While changes in medical practice have occurred
since establishment of the international Turner
syndrome guidelines," she wrote in her abstract,
"screening for associated comorbidities was deficient
in > 50% of our patients with TS."
Nabhan explained that Turner Syndrome is caused by
the complete or partial absence of an X chromosome in
girls.
"Although short stature is the most prominent
characteristic of this disorder, affected girls have
a wide range of medical problems, including cardiac,
renal, ovarian and hearing problems," she said. As a
result, she said, Turner Syndrome patients require
life-long surveillance.
In reviewing the medical records of 128 girls
identified with Turner Syndrome, Nabhan said the
average age of diagnosis was about age 4.
About half were diagnosed at birth because of
dysmorphic features, while 48% were identified at
about age 9 due to short stature.
At diagnosis, 37% of the girls had cardiac
abnormalities, detected either through
echocardiography or magnetic resonance imaging, while
32.4% exhibited renal abnormalities and 38% had
hyperlipidemia, Nabhan reported.
The girls were initiated on human growth hormone at
an average age of 7.3 years and they achieved their
final adult height after about 5.7 years of therapy.
In the study, she noted that at the patients' last
visit, 48.7% of the girl had body mass index levels
in the overweight range and of those girls, 57.3% had
a body mass index in the obese range.
Nabhan said the prevalence of co-morbidities in her
study was similar to that reported elsewhere.
"Our findings emphasize the need for continual
education for all physicians involved in the care of
girls with Turner Syndrome. Special emphasis should
be placed on routine screening for hyperlipidemia,
liver disease and cardiac health, particularly in
older girls," she said.
"Prospective studies, aimed not only on detection,
but also at prevention of co-morbidities associated
with Turner syndrome, are needed."
Nabhan
had no relevant disclosures.
Primary
source:
Pediatric Academic Societies
Source reference:
Nabhan Z, et al, "Medical care of girls with Turner
Syndrome; Where are we lacking?" PAS 2010; Abstract
1455.47.
Meet Allison Amend, author of Stations West
Meet Allison
Amend, author of Stations West
Book discussion, signing, and refreshments
Secaucus Public Library, New
Jersey
WHEN:
Friday,
April 30, 2010, 7 - 9 p.m.
WHERE:
Secaucus
Public Library
1379
Paterson Plank Road, Secaucus, NJ 07094
Directions:
www.secaucus.bccls.org, njtransit.com
HOSTED BY:
The Turner
Syndrome Foundation, Inc.,
a nonprofit organization
PO Box 726, Holmdel, NJ 07733
Tel:
800-594-4585
COST: Donations
payable to TSF
Allison’s essay, “Alone on a Path
Shared by Many”, recently published in the
New York
Times,
(January 31, 2010), shares her intimately personal
experience of living with Turner
Syndrome, a
condition that affects 1 in 2000 females.
"But
for now, I miss the children I'll never give birth to
as intensely as I miss the characters in a book after
the last page is turned. I love them dearly,
and yet they never existed."
Praise for
Stations West (LSU Press, 2010)
Oklahoma
is a forgotten territory of “Indians, outlaws
and immigrants” when its first Jewish settler, Boggy
Haurowitz, arrives in 1859. Full of expectations, he
finds the untamed landscape a formidable foe, its
landscape rugged, its resources strained.
Four generations of Haurowitzes, intertwined with a
family of Swedish immigrants, struggle against the
Territory’s “insatiable appetite.” The challenges of
creating a home amid betrayals, nature’s vagaries,
and burgeoning statehood prove too great. Each
generation in turn succumbs to the overwhelming lure
of the transcontinental railroad, and each returns
home to find the landscape of his youth, like
himself, changed beyond recognition, his family
utterly transformed.
Dramatic
and lyrical, Allison Amend’s first novel, steeped in
the history and lore of Oklahoma Territory, tells an
unforgettable multi-generational—and very
American—story of Jewish pioneers, their adopted
family, and the challenges they face. Amid the
founding of the West, Stations West’s generations
struggle to forge and maintain their identities as
Jews, as immigrants, and as Americans.
To advance order and contribute to TSF, go to
www.onecause.com
Click on
Turner Syndrome Foundation. Click on Amazon
and a portion of your total sale will benefit
TSF. Thank you!
Report summarizes 20-year safety data on recombinant human GH in children
Leukemia has not been confirmed as a major safety issue, but other signals have been detected.
Twenty years after the FDA approved recombinant human growth hormone for use in children in the United States, a new report concluded that the overall safety profile continues to be favorable, but careful monitoring for the presence of certain conditions is important during and after therapy.
Twenty-year data from the National Cooperative Growth Study (NCGS) indicate that leukemia, considered to be a major safety issue associated with GH, has not been confirmed or substantiated in children taking GH. Data indicate three observed events vs. 5.6 expected events in an age-matched general population based on years at risk (standard incidence ratio=0.54; 95% CI, 0.11-1.58). Intracranial and extracranial de novo malignancies were not significantly increased in patients without risk factors (29 confirmed vs. 26 expected; SIR=1.12; 95% CI, 0.75-1.61).
“We continue to see no increase in new malignancies or recurrences of central nervous system tumors in rhGH-treated children without risk factors. The low number of cases of new-onset leukemia without risk factors also confirms previous reports that GH therapy does not increase the incidence of leukemia in children not at risk,” researchers wrote in the Journal of Clinical Endocrinology & Metabolism.
However, the data highlight specific populations at potential risk, according to the researchers.
Such at-risk populations include children with prior malignancies who showed an increased incidence of second tumors, especially if the primary malignancy was treated with radiation therapy, and children with bilateral retinoblastoma. Data revealed second neoplasms in 49 patients; 37 had irradiation of the initial tumor, including five patients with retinoblastoma and three with bilateral retinoblastoma.
“That our data are consistent with an increase in the occurrence of second malignant tumors in children treated with rhGH is of some concern,” the researchers wrote. “Although the risk of developing a new tumor in any patient with a past malignancy is elevated regardless of rhGH therapy, this risk in those with a prior malignancy appears to be further increased by rhGH.”
Twenty-year data
The open-label, multicenter, postmarketing NCGS was established by Genentech after rhGH was approved in 1985 to monitor the safety and efficacy in children with growth disorders.
Researchers presented 20-year data on 54,996 children (65% boys) between 1985 and 2006. Enrolled patients were followed until rhGH discontinuation. Data comprise 195,419 patient-years of treatment with Genentech rhGH products.
“The overall incidence of adverse events and serious adverse events from the NCGS continues to be stable, compared with prior NCGS safety analyses,” the researchers wrote.
As of Jan. 1, 2006, there were 4,084 submitted adverse event reports: 1,559 were deemed serious, including 174 deaths. Researchers who assessed the adverse events determined most were unrelated to rhGH or did not provide a causality assessment. The most common cause of death was recurrent or new-onset central nervous system tumor, particularly in patients with organic GH deficiency. Other causes of death included respiratory failure, pneumonia/pneumonitis, cerebral edema and cardiac arrest.
Nineteen (11%) of the 174 deaths were related to rhGH. Causes of death included neoplasms, craniopharyngioma, glioblastoma, medulloblastoma recurrence, astrocytoma, brain neoplasm, neuroblastoma, osteosarcoma recurrence and pineoblastoma.
Specific groups identified as being at risk for sudden death included patients with Turner syndrome, Prader-Willi syndrome, adrenocorticotropic hormone deficiency, and from aortic dissection and rupture or respiratory failure.
Patients who used rhGH for an idiopathic short stature indication had the lowest incidence of adverse events.
Reported targeted adverse events associated with or exacerbated by rhGH included type 1 diabetes, intracranial hypertension, slipped capital femoral epiphysis, scoliosis and pancreatitis. The overall incidences remained infrequent (<1%) and were comparable with previous NCGS safety reports.
New targeted association
“New safety signals of events potentially associated with rhGH treatment, including the risk of secondary malignancies after irradiation, deaths from adrenal insufficiency and deaths in Prader-Willi syndrome, have emerged,” the researchers wrote.
Eleven events of acute adrenal insufficiency occurred in patients with organic GH deficiency and idiopathic panhypopituitarism, including four deaths. These findings are “consistent with a reported increased risk for adrenal insufficiency in hypopituitary patients with or without rhGH treatment,” according to the researchers. The time of onset of initiation to event ranged from within 24 hours to seven years (mean, 2.5 years).
Among the 511 patients in the NCGS with Prader-Willi syndrome, two died (0.44%) within six months of rhGH initiation. “The temporal relationship to the onset of rhGH therapy implies that an enhanced drug-related risk at the start of therapy cannot be excluded,” the researchers said. They recommended pretreatment evaluation for evidence of airway obstruction and sleep apnea, as respiratory impairment and morbid obesity remain contraindications to rhGH therapy.
Other recommendations based on the 20-year NCGS data include:
- Evaluation and adjustment of baseline and stress doses of glucocorticoids when GH therapy is initiated.
- Appropriate monitoring for insulin resistance among rhGH users;
- Monitoring of intracranial hypertension among children with Turner syndrome, chronic renal insufficiency and Prader-Willi syndrome.
- Continued vigilance by the practitioner to ensure long-term safety.
Allen DB. J Clin Endocrinol Metab. 2010;95:52-55.
Bell J. J Clin Endocrinol Metab. 2010;95:167-177.
Alone on a Path Shared by Many
Alone on a Path Shared by Many
By ALLISON AMEND
Published: January 29, 2010
PORTRAIT of me, 2005: New Yorker, writer, age 31. I had a new boyfriend, an agent excited about my novel and a new college teaching job. I was finally approaching happiness, even if I had taken the scenic route. I should have been running victory laps.
Here’s what happened instead: I got sick.
At first, my symptoms were nebulous, mild, easy explainable. I had recently gone off the pill after several years, so I wasn’t concerned about not yet getting my period. Hot flashes — soaring waves of heat so strong I put my cheek against germ-ridden subway poles to cool off — could also be a result of hormonal changes. I was just adjusting, I told myself.
The evidence grew harder to ignore. The doctor-prescribed progesterone didn’t set off menstruation. I started packing on pounds as if preparing for hibernation. I was waking up drenched in sweat. When others were wearing sweaters, I was overheated in a tank top. I was so quick to irritate that my students sent emissaries to ask questions.
Reluctantly, I went in for tests.
When my cellphone rang a week later I was already crying, driving to the airport to attend my aunt’s funeral. My boyfriend had dumped me suddenly that morning via e-mail after I’d just flown 3,000 miles to visit him and his family. When my doctor said, “I have bad news,” I pulled over.
“You’re in premature ovarian failure,” she said. “It’s causing early onset menopause. I don’t know how to tell you this: You won’t be able to have children.”
“O.K.,” I said. I was waiting for the next part of the sentence, the medical way around the problem. I had low thyroid function; I took a pill. I suffered from depression; a few drugs made it bearable. In my experience, medical lemons were almost always followed by a prescription for lemonade. I felt strangely calm, detached, as though we were talking about characters on television.
She said, with believable regret, “I’m very sorry to have to tell you this.”
I was upset, but not surprised. My body had been trying to tell me for months, and I just kept hitting snooze, wanting one more week, no two.
Once the tears stopped, I was filled with a deeper, duller sadness, like grief for a long-dead relative or childhood pet. I put the car in gear. My mind spun: I’ll adopt an Ethiopian orphan, find a supermodel/Rhodes scholar egg donor. There was probably even some miracle medication made of absurd ingredients like hummingbird saliva or snake testicles.
The more I thought about it, it was funny. Well, one day it would be. I pictured myself cradling my miracle baby, saying to my imaginary husband, “Remember when I told you about that day my aunt died, I got dumped and they thought I was infertile?”
The Panglossian attitude lasted only until I saw my parents at the funeral. I didn’t expect them to be so upset. After all, it was my problem, wasn’t it?
“Was it because I smoked? Did you inherit it from me?” my mother asked, though I explained that a syndrome that causes infertility is by definition not inheritable.
“You’ll get a second opinion,” my lawyer father said. I insisted that my condition was not a legal case; appealing to higher courts would not reverse the decision.
They pitied me, blamed themselves. They had always assumed there would be grandchildren, just as I had always assumed there would be children. They were suffering a loss as well. They were disappointed, however much they tried to disguise it. It felt like they were disappointed in me.
My younger brother tried ineptly to comfort me: “You’re 31,” he said. “It’s not like you could have a baby this late anyway.”
Intellectually, I understood that I was not any older after the diagnosis than before, but I felt old, ancient. I understood that children come to parents in different ways, and that many of my friends would experience infertility. But they would do it with a partner; I was going it alone. And intellectual understanding is not emotional acceptance.
I sobbed to a friend, who assumed her best armchair psychologist posture. She asked me to prioritize my losses: aunt, boyfriend, fertility.
“Boyfriend,” I said immediately. Even as I spoke, I knew it wasn’t true. We’d only been dating a short time; he was younger than I was, and neither of us had experience with long-term — let alone long-distance — relationships (he lived in Europe).
But these were only the most obvious feelings, the ones that required no deeper soul-searching. I had been dumped before; I most likely would be dumped again. The sadness was acute but recognizable, and I knew I’d survive it.
My other sorrows were more complicated, less easily accessible, potentially destructive. When I imagined my uterus and ovaries, I saw the citrus fruits they were inevitably compared to, but shriveled and dry, wrinkled and useless. Who would want me now, a barren woman?
I understood that the breakup had been coincidental, not caused by my early menopause, but it was hard to keep them separate. I hadn’t responded to the ex-boyfriend’s breakup e-mail message, so a few days later he followed it with a text: “Did u get my msg? Hop we still r frends.”
Was I really going to shed tears over someone who didn’t care enough to put the “i” in “friends”? How could someone who breaks up with me like that be at the top of my list of priorities, or even on it? I had health problems; my relatives were grieving.
After genetic testing, a diagnosis finally arrived: Turner Syndrome, a chromosomal abnormality resulting from a prenatal mutation. Some of my cells were missing their second X chromosome. Was I part male? Did that explain why I like to watch football and hate to cook?
No, I was reassured, I simply lacked the second X; there was no Y in its place. So, essentially, I was not a complete woman.
“Sure you are,” said my brother, feebly. “You throw like a girl.”
Research revealed that Turner Syndrome is common, affecting one in every 2,500 females worldwide. Some are asymptomatic, while others experience infertility, are extremely short (under 4- foot-8), and have devastating learning disabilities and social disorders, as well as severe kidney and heart problems.
I began to visit a parade of specialists to rule out the potentially serious manifestations of T.S. My symptoms were mild, treatable. Except my infertility.
When I wasn’t seeing doctors, I put in cameo appearances at my classes, and tried, unsuccessfully, not to feel sorry for myself. I bought a book on premature menopause. It recommended I give myself time to grieve for the children I would never have, which sounded hokey but felt true. It seemed like something had been stolen from me.
One morning I collapsed in paroxysms of sobs, legs splayed, surrounded by a tutu of medical record photocopies on the floor of the radiology department at the hospital. Phone hot with use to my ear, I screamed at the health insurance agent who had the bad luck to answer my call after a 20-minute hold and alternately begged and demanded that she grant approval for an echocardiogram before I dropped dead of an aortic dissection, a disproportionately common cause of death in Turner Syndrome patients (though extremely unlikely in my case). Then I went to a bar, ordered two drinks at once, and drank them both before 11:30 a.m.
I ATTENDED the annual Turner Syndrome conference to meet others with the disorder, to be able to speak freely in medical shorthand, to ask how I was supposed to tell potential suitors about my condition. But the women at the conference were nothing like me. Some had physical deformities: lowered hairlines, turned-out elbows, receding lower jaws, scars from heart surgery. Because of their learning and spatial disabilities, many didn’t hold college degrees or drive a car. Others suffered from social disorders akin to high-functioning autism.
At 5-foot-4, I was eight inches taller than the average Turner woman. I had a master’s degree; I was a competent driver. I was lucky.
I did, however, return from the conference having discovered a community — the one I already had. My circle of friends and family were the ones who would be my comfort. I needed to grieve with them, not apart from them.
And some, of course, were feeling the same grief. I asked a friend who also was struggling with infertility to accompany me to a reproductive endocrinologist where she stood behind the doctor during a vaginal ultrasound and assessed my vestigial follicles (our friendship will never be the same).
Since then, more friends have had trouble conceiving. They confide in me; I understand the devastation of high follicle-stimulating hormone or low estradiol levels. In many ways, though, they are in greater immediate pain, as they want a baby right now, while I consider motherhood an abstract concept to be explored sometime in the future.
One day, walking with a friend who was undergoing in vitro fertilization, it seemed like baby bumps were everywhere, with every magazine on every stand showcasing fecund celebrities and happy families.
“When you’re infertile,” I said to her, “the whole world is pregnant.”
She laughed. We find comfort in our mutual misery.
Still, I can’t help but wonder about the lemonade that is supposed to result from these lemons, the great man who comes to love me despite my failed ovaries and whose love I accept and return despite my feelings of inadequacy. I trust that some day it will no longer hurt to see pregnant friends and new babies, and that I won’t feel like crying when people say, “You’ll see, when you’re pregnant.”
But for now, I miss the children I’ll never give birth to as intensely as I miss the characters in a book after the last page is turned. I love them dearly, and yet they never existed.
Allison Amend lives in New York City. Her debut novel, “Stations West,” is coming from LSU Press in March.
A version of this article appeared in print on January 31, 2010, on page ST6 of the New York edition.
New Hope for TS Patients
Professor Lea Ann Matura teaches a class. Photo by Craig Bailey
June 15, 2009
When Lea Ann Matura, a professor of nursing at Northeastern University’s Bouvé College of Health Sciences, was conducting her postdoctoral research at a National Institutes of Health clinic in Bethesda, Md., it was not uncommon for her to encounter a 20-year-old woman with the bones of an 80-year-old, or a 30-year-old mother who herself looked like a child.
These patients suffer from Turner Syndrome, a genetic disorder caused by a missing X chromosome and affecting approximately one in every 2,500 females. They can also be victims of an underlying, potentially fatal heart condition known as aortic dilation—the specific subject of Matura’s research. Left undiagnosed, this condition can deteriorate into aortic dissection, causing layers of the heart to separate.
Women with Turner Syndrome are typically diagnosed with aortic dilation around the age of 36, explains Matura. “Without treatment, patients usually die within four to six years.”
At Northeastern, Matura is continuing her search for treatments for this devastating heart defect—as well as pulmonary arterial hypertension, another side effect of the syndrome. In collaboration with the pulmonary vascular clinic at the Massachusetts General Hospital, Matura is working to develop treatments that would ease the shortness of breath, difficulty breathing, swelling of extremities, and extreme fatigue that most patients suffering from Turner-related heart issues develop.
The problem is not so much that there are no current treatments, but rather that those treatments are cumbersome and impede quality of life. “They tend to be IV medications that need to be worn constantly and require extra oxygen,” explains Matura. “The literature talks about the devastating emotional affect that is caused by having to carry around oxygen—so there’s a real psychological component to this.”
“Our goal is to develop less obtrusive interventions—even the possibility of new drugs—in an effort to prolong their lives and ease their symptoms.”
Matura is working on partnering with Massachusetts General Hospital to do further studies on Turner-related heart issues, and hopes to open up new opportunities for her students to conduct important research.
Matura has published many articles on the subject, including “Aortic Valve Disease in Turner Syndrome” in a 2008 issue of the Journal of the American College of Cardiology. She has also won several awards for her work, including the Society of Critical Care Medicine Presidential Award and the Rising Stars of Scholarship and Research at Texas Women’s University.
She completed her doctoral degree at Texas Woman's University, and went on to complete a postdoctoral fellowship at the National Institutes of Health in Maryland. In September, she joined the Northeastern University School of Nursing, where in addition to her research she teaches two courses: Nursing Care of Adults and Nursing with Acutely Ill Adults and Families.
For more information, please contact Susan Salk at 617-373-5446 or at s.salk@neu.edu.
Mother's Little Miracle
Turner Syndrome made pregnancy seem impossible
By Harriet Daniels
Published: Saturday, September 5, 2009 at 6:30 a.m.
Last Modified: Saturday, September 5, 2009 at 7:07 a.m.
Defying her doctors is commonplace for Winona Jones Youmans, especially when it comes to what she can and can't do.
The 23-year-old Ocala woman, who has Turner Syndrome, was never expected to become a mother naturally. And she had accepted that fact.
But not only did she conceive without the aid of doctors, Youmans had a normal pregnancy and recently delivered a healthy boy.
Victor Youmans III was born on July 30 at Shands at the University of Florida by Caesarean without any complications. At birth he weighed 5 pounds, 4 ounces. Now a month old, the newborn weighs 7 pounds, 14 ounces.
"He's greedy, and always wants to eat," Youmans said laughing. "He's doing really good."
Turner Syndrome is a disorder caused by a partially or completely missing X chromosome. It is a condition that affects only females. Most women with TS are infertile. While the option of assisted reproduction is available to some women with Turner's, a healthy pregnancy is rare.
Mom, like son, is doing good in spite of the odds stacked against her. The pregnancy was considered high risk because of her condition coupled with congenital heart disease, which is common among Turner's patients. She was on a strict diet and was not able to work for most of the pregnancy.
"I cried for days after they told me I could not work for six months," Youmans said.
She is a licensed cosmetologist and is working to become a medical assistant. She continued her class work online while pregnant.
Doctors opted for a Caesarean delivery for baby Victor to avoid additional strain on Youmans' heart.
Youmans was not especially trying to get pregnant and initially did not think much of a late menstrual cycle. After a few weeks, a positive home pregnancy test was met with shock, disbelief and joy.
"I did not believe her when she first told me," said her husband, Victor Youmans Jr. "Her friend had just found out she was having a baby, so I thought they were playing a joke, but it wasn't. Wow."
Dr. Janet Silverstein, a pediatric endocrinologist at Shands, who has treated Youmans for more than a decade, also found the news shocking, "but that's Winona - she's always defied the odds."
"I've declared myself the surrogate grandma," Silverstein said. "He's part mine."
Silverstein, who treats several patients with Turner Syndrome, said all are advised that their chances of conceiving on their own are small. In many cases, Silverstein said, the reproductive eggs of a woman with TS are already mature before her birth.
Youmans has a mosaic pattern of TS, which means some of her cells are missing an X chromosome (45,X), while other cells have different a chromosome composition (such as 46,XX).
Research shows that while about 2 percent of Turner's patients can get pregnant, only 38 percent of that group have healthy babies.
"Most are stillborn or have other abnormalities, or the mother miscarries," Silverstein said.
She said it's likely Youmans can get pregnant again. While that might be so, Youmans' husband is not so eager for a repeat.
"She's one of the smallest people with one of the biggest hearts," he said. "I don't want her to do this again. This was a close call for her, so I think we will take our miracle and run," he said.
Dr. Arwa Saidi, who specializes in pediatric cardiology and adults with congenital heart disease at Shands, has treated Youmans for six years. She said Youmans did much better through the pregnancy than her doctors dared to imagine.
"We followed her very closely, especially the last two to three months, and she appears to have done well, and so did the baby," Saidi said.
Most girls with TS are short in stature and have a variety of additional challenges such as heart or hearing problems.
Youmans is in the group of women, 17-45 percent, who have congenital heart disease.
For Youmans, her 4-foot-11-inch height was achieved through growth hormones. However, when she reached puberty, her reproductive organs appeared to have developed normally without the assistance of estrogen therapy.
Doctors initially diagnosed her congenital heart disease at 7 months old. Youmans is the survivor of two open-heart surgeries, the first when she was 9 months old and the second three years ago.
An exhaustive battery of genetic tests were run on Youmans during her early childhood as doctors looked for answers as to why she had heart problems. She first was diagnosed with TS when she was around 5 years old.
Turner's was a foreign word to her parents, who struggled to deal with their youngest child's condition.
Youmans said her family always has been very protective of her, something her mother, Brenda Jones, said will never change.
"The doctors did not want her to cry for anything because it would stress her heart, so we had to keep her from crying, so she was spoiled a bit," Jones said with a smile. "I overdid it buying her things.
When doctors first made the diagnosis of TS, Jones said it sounded like total heart failure.
"I did not know if my child would live," Jones said.
In those early days, as she does now, Jones depended on her faith and prayer to get through the difficult moments. And she remembers there were many, especially at first when the family did not have medical insurance.
While Youmans had the spirit of heart to try and keep up with her friends in various activities such as cheerleading, her physical heart often stood in the way. She managed to become an assistant for the basketball team at Vanguard High School.
"I was responsible for keeping the scores and other statistics that was an important job. So I was still a part of the team, just in a different way," she said. "I was disappointed I could not play or be a cheerleader, but it was not the end of the world for me."
She missed a lot of school during medical crises, but her friends always made sure she kept up with class work and happenings on campus.
"I was like everyone's little sister," Youmans said. "They always looked out for me."
Youmans knows further heart surgeries might be needed as she ages.
She admits being a little fearful during her pregnancy. She said it was all worth it in order to become a mother, "something I never thought I'd do."
Turner Syndrome Bonds Mom and Adopted Daughter
The New Jersey Chapter would like to thank Carly Rothman, journalist with the Star Ledger newspaper, and the team of photographers and videographers for investing time to create this piece about Turner syndrome and the Jennings family adoption story. Susan Jennings' selfless mission to share intimate experiences continues to bring awareness and hope to those affected.
We welcome others to share their stories on the TSNJ blog at www.nj.com/Helpinghands.com/turnersyndrome. It is in reaching out and sharing stories that we can help and inspire others.
Congratulations to Susan Jennings
Susan did not receive growth hormone therapy and stands at 4'6". Her daughter has received GH and stands at 5' tall. The visual impact of early detection and treatment is evident in this visual piece.
Dr. Chayim Newmark, Pediatric Endocrinologist, of St. Barnabas Pediatric Specialty Center of St. Barnabas Ambulatory Care Center in Livingston, NJ was very generous of his time on this project. He expressed interest in supporting our efforts and will plan to speak at an upcoming chapter meeting on the topic of female hormone replacement therapy.
Together, we will continue to do this most important work of creating awareness and providing support.
Are We Providing State-of-the-Art Care for Girls and Women with Turner Syndrome?
Carolyn Bondy, MS, MD; Marsha L. Davenport, MD; Judith L. Ross, MD; Claus Hojbjerg Gravholt, MD, PhD
This Web-based CME program is based on a symposium that took place on June 16, 2008, in San Francisco in conjunction with The Endocrine Society's 90th Annual Meeting. More...
Cardiovascular problems in Turner syndrome are a major concern.
Since Turner syndrome was first described in 1938, pediatric endocrinologists, cardiologists and other specialists have done extensive research to better understand the disorder and improve quality of life for patients. Many advancements in the treatment of the disease have been made; at present, for example, growth hormone therapy can increase final adult height in women with Turner syndrome, and assisted reproductive techniques can help women achieve pregnancy. More.....
Miracle of Meghan: One Parent's Memoir
|
Utah mom offers hope to
families dealing with a devastating health
condition
|
Reported by:Nicea Degering
Last Update: 8/27/2009 9:47 am
SARATOGA SPRINGS, Utah (ABC4 News) - For expectant moms, it's one of the most common causes of miscarriage, but many women know nothing about it. Turner Syndrome, the diagnosis can be devastating for families, but now one Utah mom is trying to offer hope.
Her daughter, Meghan Stevenson, sounds like a typical teenager. She likes make-up and the Jonas Brothers, but says this is what makes her happy:
"When my friends tell me that I'm unique and I'm special and I'm not like many girls," Meghan says.
What Meghan has lived with her entire life is anything but typical. Meghan has Turner Syndrome. She is missing an X chromosome. She was diagnosed when her mother Sarah was twenty weeks pregnant.
"It was like, I have no idea what that is and I was in such shock when they told me. And what they did tell me, I didn't comprehend what they were saying," Stevenson says.
Turner Syndrome affects only females and can mean short stature, infertility and sometimes heart and kidney problems. For pregnant moms, seventy-five percent of the babies are stillborn. But Meghan survived.
"All through the pregnancy, all I kept thinking was I just want to hold her once. Whether she was alive or not made it to term, I just wanted the opportunity to hold her once. When that experience came true I looked at her and thought, you are my little miracle," Stevenson says.
Sarah Stevenson has now written a book that started as a collection of journal entries, to give other families hope. With Meghan's blessing of course.
"Honestly, I didn't know she was writing a book until she showed me the papers. She published them and I said, cool! I think it would be fun, so I let her publish it," Meghan says.
The book is about a little girl who while dealing with a tough condition has made everyone around her more compassionate and understanding. And for those reading, this book has a happy ending.
"I hope it makes them feel that although things can be hard in life, sometimes those really hard things can be some of the greatest things in your life," Stevenson says.
There are about seventy-five thousand girls in the United States living with Turner Syndrome. And there is a Turner Syndrome Society here in Utah. If you would like more information call 801-766-9521 or go towww.turnersyndrome.org You can find Stevenson's book atwww.mapleleafcenter.com
